Results 11 to 20 of about 8,373,614 (131)

X‐linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA‐binding site mutations [PDF]

American Journal of Hematology, 2013
X‐linked sideroblastic anemia (XLSA) is the most common form of congenital sideroblastic anemia. In affected males, it is uniformly associated with partial loss‐of‐function missense mutations in the erythroid‐specific heme biosynthesis protein 5‐aminolevulinate synthase 2 (ALAS2).
Campagna, D.R., De Bie, C.I., Schmitz-Abe, K., Sweeney, M., Sendamarai, A.K., Schmidt, P.J., Heeney, M.M., Yntema, H.G., Yntema, H.G., Kannengiesser, C., Grandchamp, B., Niemeyer, C.M., Knoers, N.V.A.M., Swart, S., Marron, G., van Wijk, R., Raymakers, R.A.P., Raymakers, R.A.P., May, A., Markianos, K., Bottomley, S.S., Swinkels, D.W., Swinkels, D.W., Fleming, M.D.   +23 more
openaire   +6 more sources

Congenital sideroblastic anemia: A report of two cases

Indian Journal of Pathology and Microbiology, 2009
Sideroblastic anemia, comprising of acquired and congenital forms, is a heterogeneous group of disorders characterized by the presence of ring sideroblasts in the bone marrow. Congenital sideroblastic anemia is a rare condition which is mostly X-linked,
Gupta Sanjeev, Rao Seema, Kar Rakhee, Tyagi Seema, Pati Hara   +4 more
doaj   +1 more source

Severe Macrocytic Anemia Associated With a Novel ALAS2 Mutation: A Case Report and Literature Review

Clinical Case Reports
X‐linked sideroblastic anemia (XLSA), caused by pathogenic variants in ALAS2, typically presents as microcytic anemia in males. However, heterozygous females occasionally exhibit an atypical macrocytic phenotype, often leading to diagnostic ambiguity and
Haodong Cai, Kefeng Shen, Jin Wang, Jia Gu, Meilan Zhang, Min Xiao   +5 more
doaj   +2 more sources

Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia [PDF]

Haematologica, 2011
Background Congenital sideroblastic anemias are rare disorders with several genetic causes; they are characterized by erythroblast mitochondrial iron overload, differ greatly in severity and some occur within a syndrome.
Caroline Kannengiesser, Mayka Sanchez, Marion Sweeney, Gilles Hetet, Briedgeen Kerr, Erica Moran, Jose L. Fuster Soler, Karim Maloum, Thomas Matthes, Caroline Oudot, Axelle Lascaux, Corinne Pondarré, Julian Sevilla Navarro, Sudharma Vidyatilake, Carole Beaumont, Bernard Grandchamp, Alison May   +16 more
doaj   +2 more sources

Absent phenotypic expression of X-linked sideroblastic anemia in one of 2 brothers with a novel ALAS2 mutation

Blood, 2002
X-linked sideroblastic anemia (XLSA) is caused by mutations in the erythroid-specific 5-aminolevulinic acid synthase (ALAS2)gene. Hemizygous males have microcytic anemia and iron overload. A 38-year-old male presented with this phenotype (hemoglobin [Hb] 7.6 g/dL, mean corpuscular volume [MCV] 64 fL, serum ferritin 859 μg/L), and molecular analysis of ...
CAZZOLA, MARIO, May A, Bergamaschi G, Cerani P, Ferrillo S, Bishop DF   +5 more
openaire   +4 more sources

Acquired Sideroblastic Anemia: An Exploratory Comparative Statistical Analysis Between Clonal and Non-clonal Cases [PDF]

, 2022
Sideroblastic anemia (SA) is a rare heterogenous group of inherited and acquired bone marrow disorders. We retrospectively studied the clinicopathologic characteristics, cytogenetic findings, and disease outcome of patients with acquired sideroblastic ...
Soliman, Dina S., Amer, Aliaa, Dina Sameh Soliman, Fareed, Shehab, Ganwo, Ibrahim, Shehab Fareed, Prem Chandra, El-Omri, Halima, Feryal Ibrahim, Kohla, Samah, Halima El-Omri, Ibrahim, Feryal, Samah Kohla, Chandra, Prem, Ibrahim Ganwo, Susanna Akiki, Aliaa Amer, Akiki, Susanna   +17 more
core   +1 more source

A rare case of isoniazid induced sideroblastic anemia [PDF]

, 2023
Sideroblastic anemia is a rare cause of anemia. Most of it accounts for the genetic cause, while drug induced is still uncommon. Our patient, a 20 year old female, is a known case of right frontal tuberculoma on ATT presented with complaints of ...
Gulati, Shipra, Hari, Arjun B., Chawla, Kunal, Dessai, Rishikesh   +3 more
core   +1 more source

Pyridoxine Response in Mouse Alas2 Knock-in Models of X-Linked Sideroblastic Anemia and X-Linked Protoporphyria

Blood, 2021
Abstract Introduction. Pyridoxal 5' Phosphate (PLP) is the cofactor form of vitamin B6 in ~60 human enzymes. The first enzyme of the heme biosynthesis pathway, delta-aminolevulinic acid synthase (ALAS), that catalyzes the condensation of glycine and succinyl-CoA to form 5-ALA the sole precursor of porphyrins and heme, is ...
Sarah Ducamp, Paul J Schmidt, Dean R Campagna, Mark D. Fleming   +3 more
openaire   +1 more source

Differentiating iron-loading anemias using a newly developed and analytically validated ELISA for human serum erythroferrone.

PLoS ONE, 2021
Erythroferrone (ERFE), the erythroid regulator of iron metabolism, inhibits hepcidin to increase iron availability for erythropoiesis. ERFE plays a pathological role during ineffective erythropoiesis as occurs in X-linked sideroblastic anemia (XLSA) and ...
Laura Diepeveen, Rian Roelofs, Nicolai Grebenchtchikov, Rachel van Swelm, Leon Kautz, Dorine Swinkels   +5 more
doaj   +1 more source

A Novel ALAS2 Missense Mutation in Two Brothers With Iron Overload and Associated Alterations in Serum Hepcidin/Erythroferrone Levels

Frontiers in Physiology, 2020
Iron loading anemias are characterized by ineffective erythropoiesis and iron overload. The prototype is non-transfusion dependent ß-thalassemia (NTDT), with other entities including congenital sideroblastic anemias, congenital dyserythropoietic anemias,
Acaynne Lira Zidanes, Acaynne Lira Zidanes, Giacomo Marchi, Giacomo Marchi, Fabiana Busti, Fabiana Busti, Alessandro Marchetto, Elisa Fermo, Alejandro Giorgetti, Alice Vianello, Alice Vianello, Annalisa Castagna, Annalisa Castagna, Oliviero Olivieri, Oliviero Olivieri, Paola Bianchi, Domenico Girelli, Domenico Girelli   +17 more
doaj   +1 more source